ClinVar Miner

List of variants reported as uncertain significance for Cholestanol storage disease by Counsyl

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_000784.4(CYP27A1):c.1017G>A (p.Thr339=) rs200553205 0.00010
NM_000784.4(CYP27A1):c.1582C>T (p.Gln528Ter) rs376609492 0.00004
NM_000784.4(CYP27A1):c.410G>A (p.Arg137Gln) rs587778818 0.00004
NM_000784.4(CYP27A1):c.545T>C (p.Ile182Thr) rs556745324 0.00004
NM_000784.4(CYP27A1):c.674G>A (p.Arg225His) rs753275244 0.00003
NM_000784.4(CYP27A1):c.1175A>C (p.Glu392Ala) rs1245201394 0.00001
NM_000784.4(CYP27A1):c.1537C>T (p.Arg513Cys) rs560108684 0.00001
NM_000784.4(CYP27A1):c.1588C>T (p.Gln530Ter) rs747389432 0.00001
NM_000784.4(CYP27A1):c.1591del (p.Cys531fs) rs755723759 0.00001
NM_000784.4(CYP27A1):c.203T>G (p.Phe68Cys) rs587780327 0.00001
NM_000784.4(CYP27A1):c.409C>T (p.Arg137Trp) rs72551312 0.00001
NM_000784.4(CYP27A1):c.435G>T (p.Gly145=) rs587778796 0.00001
NM_000784.4(CYP27A1):c.1017G>T (p.Thr339=) rs200553205
NM_000784.4(CYP27A1):c.1028C>G (p.Thr343Arg) rs372194079
NM_000784.4(CYP27A1):c.1174G>A (p.Glu392Lys) rs1553616443
NM_000784.4(CYP27A1):c.1183C>A (p.Arg395Ser) rs121908096
NM_000784.4(CYP27A1):c.1209C>G (p.Asn403Lys) rs587778781
NM_000784.4(CYP27A1):c.1514_1516del (p.Thr505_Gly506delinsArg) rs1400183633
NM_000784.4(CYP27A1):c.1538G>A (p.Arg513His) rs144701596
NM_000784.4(CYP27A1):c.1589del (p.Gln530fs) rs1553616552
NM_000784.4(CYP27A1):c.1596del (p.Ter532TrpextTer?) rs1553616555
NM_000784.4(CYP27A1):c.172GAG[1] (p.Glu59del) rs766316288
NM_000784.4(CYP27A1):c.1A>G (p.Met1Val) rs1446633660
NM_000784.4(CYP27A1):c.201CTT[2] (p.Phe70del) rs774193477
NM_000784.4(CYP27A1):c.49_75del (p.Gly17_Ala25del) rs1553614280
NM_000784.4(CYP27A1):c.721_723dup (p.Val241dup) rs1553616276
NM_000784.4(CYP27A1):c.76_99del (p.Arg26_Ala33del) rs1188925314

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